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DHCR7 mutations linked to higher vitamin D status allowed early human migration to Northern latitudes

Kuan, V; Martineau, AR; Griffiths, CJ; Hyppönen, E; Walton, R; (2013) DHCR7 mutations linked to higher vitamin D status allowed early human migration to Northern latitudes. BMC Evolutionary Biology , 13 , Article 144. 10.1186/1471-2148-13-144. Green open access

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Abstract

Vitamin D is essential for a wide range of physiological processes including immune function and calcium homeostasis. Recent investigations have identified candidate genes which are strongly linked to concentrations of 25-hydroxyvitamin D. Since there is insufficient UVB radiation to induce year-round cutaneous synthesis of vitamin D at latitudes distant from the equator it is likely that these genes were subject to forces of natural selection. We used the fixation index (FST) to measure differences in allele frequencies in 993 individuals from ten populations to identify the presence of evolutionary selection in genes in the vitamin D pathway. We then explored the length of haplotypes in chromosomes to confirm recent positive selection.

Type: Article
Title: DHCR7 mutations linked to higher vitamin D status allowed early human migration to Northern latitudes
Open access status: An open access version is available from UCL Discovery
DOI: 10.1186/1471-2148-13-144
Publisher version: http://dx.doi.org/10.1186/1471-2148-13-144
Language: English
Additional information: PMCID: PMC3708787 © 2013 Kuan et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Health Informatics
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Health Informatics > Clinical Epidemiology
URI: https://discovery.ucl.ac.uk/id/eprint/1399582
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